NM_001844.5(COL2A1):c.4148C>T (p.Thr1383Met)
|
rs138498898
|
0.00005
|
NM_001844.5(COL2A1):c.4316C>T (p.Thr1439Met)
|
rs121912886
|
0.00005
|
NM_001844.5(COL2A1):c.3505G>A (p.Val1169Ile)
|
rs760390497
|
0.00003
|
NM_001844.4(COL2A1):c.971delG
|
rs1555168309
|
|
NM_001844.5(COL2A1):c.1043G>A (p.Gly348Asp)
|
rs2136590361
|
|
NM_001844.5(COL2A1):c.1051G>C (p.Gly351Arg)
|
|
|
NM_001844.5(COL2A1):c.1052G>T (p.Gly351Val)
|
rs1939615464
|
|
NM_001844.5(COL2A1):c.1058_1068dup (p.Gly357fs)
|
rs2136590109
|
|
NM_001844.5(COL2A1):c.1060G>A (p.Gly354Arg)
|
rs121912871
|
|
NM_001844.5(COL2A1):c.1064del (p.Pro355fs)
|
|
|
NM_001844.5(COL2A1):c.1085_1096del (p.Ala362_Pro365del)
|
rs2136587632
|
|
NM_001844.5(COL2A1):c.1090G>T (p.Gly364Cys)
|
rs2136587685
|
|
NM_001844.5(COL2A1):c.1122+1G>C
|
rs1565686170
|
|
NM_001844.5(COL2A1):c.1232G>A (p.Gly411Glu)
|
rs2136577158
|
|
NM_001844.5(COL2A1):c.1240G>A (p.Gly414Arg)
|
|
|
NM_001844.5(COL2A1):c.1266+5G>C
|
rs1064794958
|
|
NM_001844.5(COL2A1):c.1267-2A>G
|
rs2136576254
|
|
NM_001844.5(COL2A1):c.1267G>A (p.Gly423Ser)
|
|
|
NM_001844.5(COL2A1):c.1331G>A (p.Gly444Asp)
|
rs1939463507
|
|
NM_001844.5(COL2A1):c.1393G>A (p.Gly465Ser)
|
rs1939445848
|
|
NM_001844.5(COL2A1):c.1420G>A (p.Gly474Ser)
|
rs2136571594
|
|
NM_001844.5(COL2A1):c.1439G>A (p.Gly480Glu)
|
rs2136571455
|
|
NM_001844.5(COL2A1):c.1457G>A (p.Gly486Asp)
|
rs1939412490
|
|
NM_001844.5(COL2A1):c.1484G>A (p.Gly495Glu)
|
rs2136571080
|
|
NM_001844.5(COL2A1):c.1502G>A (p.Gly501Glu)
|
|
|
NM_001844.5(COL2A1):c.1513C>T (p.Pro505Ser)
|
rs865903887
|
|
NM_001844.5(COL2A1):c.1520G>A (p.Gly507Glu)
|
rs868417981
|
|
NM_001844.5(COL2A1):c.1527+1G>A
|
|
|
NM_001844.5(COL2A1):c.1556G>A (p.Gly519Asp)
|
rs1555167139
|
|
NM_001844.5(COL2A1):c.156C>A (p.Cys52Ter)
|
rs1246771678
|
|
NM_001844.5(COL2A1):c.1573G>A (p.Gly525Ser)
|
rs2136568585
|
|
NM_001844.5(COL2A1):c.1581+1G>A
|
|
|
NM_001844.5(COL2A1):c.1646G>A (p.Gly549Asp)
|
rs2136567807
|
|
NM_001844.5(COL2A1):c.1658_1675del (p.Glu553_Gly558del)
|
rs2136567630
|
|
NM_001844.5(COL2A1):c.1673G>A (p.Gly558Glu)
|
rs2136567637
|
|
NM_001844.5(COL2A1):c.1680+2T>G
|
rs1565681966
|
|
NM_001844.5(COL2A1):c.1680+2dup
|
rs2136567546
|
|
NM_001844.5(COL2A1):c.1693C>T (p.Arg565Cys)
|
rs121912884
|
|
NM_001844.5(COL2A1):c.1754G>A (p.Gly585Asp)
|
|
|
NM_001844.5(COL2A1):c.1826G>T (p.Gly609Val)
|
rs140580674
|
|
NM_001844.5(COL2A1):c.1862G>A (p.Gly621Glu)
|
rs1939281881
|
|
NM_001844.5(COL2A1):c.1937dup (p.Ala647fs)
|
rs2136558900
|
|
NM_001844.5(COL2A1):c.193G>A (p.Asp65Asn)
|
rs1940156255
|
|
NM_001844.5(COL2A1):c.1952G>T (p.Gly651Val)
|
rs1447463543
|
|
NM_001844.5(COL2A1):c.1955A>G (p.Glu652Gly)
|
rs2136556852
|
|
NM_001844.5(COL2A1):c.1966C>T (p.Gln656Ter)
|
|
|
NM_001844.5(COL2A1):c.1969G>A (p.Gly657Ser)
|
rs1269619781
|
|
NM_001844.5(COL2A1):c.2049+1G>A
|
rs1555166658
|
|
NM_001844.5(COL2A1):c.2050G>A (p.Gly684Ser)
|
rs1231988113
|
|
NM_001844.5(COL2A1):c.2059G>A (p.Gly687Ser)
|
rs1939189846
|
|
NM_001844.5(COL2A1):c.2104G>A (p.Gly702Ser)
|
|
|
NM_001844.5(COL2A1):c.2114G>A (p.Gly705Asp)
|
rs2136551606
|
|
NM_001844.5(COL2A1):c.2167G>A (p.Gly723Ser)
|
rs1939173389
|
|
NM_001844.5(COL2A1):c.2173_2181del (p.722PGT[1])
|
|
|
NM_001844.5(COL2A1):c.2293G>A (p.Gly765Ser)
|
|
|
NM_001844.5(COL2A1):c.2321G>A (p.Gly774Asp)
|
rs2136546742
|
|
NM_001844.5(COL2A1):c.2355+2del
|
rs1555166295
|
|
NM_001844.5(COL2A1):c.2369_2387del (p.Pro790fs)
|
rs2136544726
|
|
NM_001844.5(COL2A1):c.2401G>A (p.Gly801Ser)
|
|
|
NM_001844.5(COL2A1):c.2464G>A (p.Gly822Ser)
|
rs2136539942
|
|
NM_001844.5(COL2A1):c.2519G>A (p.Gly840Asp)
|
rs2136538046
|
|
NM_001844.5(COL2A1):c.2546G>C (p.Gly849Ala)
|
rs1939004215
|
|
NM_001844.5(COL2A1):c.2581G>C (p.Gly861Arg)
|
|
|
NM_001844.5(COL2A1):c.2594del (p.Pro865fs)
|
rs2136537559
|
|
NM_001844.5(COL2A1):c.2596C>T (p.Gln866Ter)
|
rs1592206729
|
|
NM_001844.5(COL2A1):c.2600G>A (p.Gly867Asp)
|
|
|
NM_001844.5(COL2A1):c.2625+1del
|
rs2136537220
|
|
NM_001844.5(COL2A1):c.2625+2T>C
|
|
|
NM_001844.5(COL2A1):c.2680-1G>A
|
rs2136532474
|
|
NM_001844.5(COL2A1):c.2725G>A (p.Gly909Ser)
|
|
|
NM_001844.5(COL2A1):c.2748CCCTGGTCC[1] (p.914PGP[2])
|
rs2136528419
|
|
NM_001844.5(COL2A1):c.2748CCCTGGTCC[3] (p.Pro922_Ser923insProGlyPro)
|
rs2136528419
|
|
NM_001844.5(COL2A1):c.2788G>A (p.Gly930Ser)
|
rs886043540
|
|
NM_001844.5(COL2A1):c.2860G>A (p.Gly954Ser)
|
rs1938864270
|
|
NM_001844.5(COL2A1):c.2862C>T (p.Gly954=)
|
rs367806541
|
|
NM_001844.5(COL2A1):c.2910_2918del (p.Pro971_Pro973del)
|
rs2136526614
|
|
NM_001844.5(COL2A1):c.292+2T>A
|
|
|
NM_001844.5(COL2A1):c.293-2A>T
|
|
|
NM_001844.5(COL2A1):c.2950G>C (p.Gly984Arg)
|
rs2136526413
|
|
NM_001844.5(COL2A1):c.2965C>T (p.Arg989Cys)
|
rs121912874
|
|
NM_001844.5(COL2A1):c.2995G>T (p.Gly999Cys)
|
rs2136526244
|
|
NM_001844.5(COL2A1):c.3013G>A (p.Gly1005Ser)
|
rs753342774
|
|
NM_001844.5(COL2A1):c.3022G>T (p.Gly1008Cys)
|
rs2136525233
|
|
NM_001844.5(COL2A1):c.3050G>A (p.Gly1017Asp)
|
rs2136525107
|
|
NM_001844.5(COL2A1):c.3062_3079del (p.Pro1021_Gly1026del)
|
rs1555165335
|
|
NM_001844.5(COL2A1):c.3136C>T (p.Pro1046Ser)
|
rs751205887
|
|
NM_001844.5(COL2A1):c.3139G>A (p.Gly1047Ser)
|
rs1555165245
|
|
NM_001844.5(COL2A1):c.3149G>A (p.Gly1050Asp)
|
rs1555165242
|
|
NM_001844.5(COL2A1):c.3165+2_3166-84del
|
rs1938789358
|
|
NM_001844.5(COL2A1):c.3256G>A (p.Gly1086Arg)
|
|
|
NM_001844.5(COL2A1):c.3311G>A (p.Gly1104Glu)
|
rs886043356
|
|
NM_001844.5(COL2A1):c.3435+4_3435+7del
|
|
|
NM_001844.5(COL2A1):c.3436-2A>G
|
rs1592198803
|
|
NM_001844.5(COL2A1):c.3472G>C (p.Gly1158Arg)
|
rs1057518911
|
|
NM_001844.5(COL2A1):c.3491G>A (p.Gly1164Asp)
|
rs1476546104
|
|
NM_001844.5(COL2A1):c.3563G>C (p.Gly1188Ala)
|
rs1592197682
|
|
NM_001844.5(COL2A1):c.3589G>A (p.Gly1197Ser)
|
rs121912870
|
|
NM_001844.5(COL2A1):c.3757dup (p.Ala1253fs)
|
rs2136511549
|
|
NM_001844.5(COL2A1):c.3887-2A>G
|
rs2136508967
|
|
NM_001844.5(COL2A1):c.388G>T (p.Glu130Ter)
|
|
|
NM_001844.5(COL2A1):c.3897G>T (p.Trp1299Cys)
|
rs2136508895
|
|
NM_001844.5(COL2A1):c.3936G>T (p.Lys1312Asn)
|
rs745788222
|
|
NM_001844.5(COL2A1):c.4133T>A (p.Leu1378Gln)
|
rs2136505985
|
|
NM_001844.5(COL2A1):c.429+2T>G
|
|
|
NM_001844.5(COL2A1):c.4317+1G>A
|
rs2136504667
|
|
NM_001844.5(COL2A1):c.4345_4346del (p.Val1449fs)
|
|
|
NM_001844.5(COL2A1):c.4387_4389del (p.Ile1463del)
|
rs527236145
|
|
NM_001844.5(COL2A1):c.4453T>C (p.Cys1485Arg)
|
rs1565664095
|
|
NM_001844.5(COL2A1):c.491dup (p.Gly165fs)
|
rs1592235241
|
|
NM_001844.5(COL2A1):c.575del (p.Gly192fs)
|
|
|
NM_001844.5(COL2A1):c.604_609+2del
|
rs2136621947
|
|
NM_001844.5(COL2A1):c.609+4del
|
rs1555168965
|
|
NM_001844.5(COL2A1):c.610-17_617del
|
rs2136619163
|
|
NM_001844.5(COL2A1):c.610-2A>G
|
|
|
NM_001844.5(COL2A1):c.610-2A>T
|
|
|
NM_001844.5(COL2A1):c.620G>T (p.Gly207Val)
|
rs2136619125
|
|
NM_001844.5(COL2A1):c.638G>A (p.Gly213Asp)
|
|
|
NM_001844.5(COL2A1):c.654+4dup
|
rs2136618963
|
|
NM_001844.5(COL2A1):c.870+5_870+7delinsCCTTTGTGAGAAGGTTACTTC
|
|
|
NM_001844.5(COL2A1):c.870+5_870+7delinsCCTTTGTGAGAAGGTTCATTC
|
|
|
NM_001844.5(COL2A1):c.970-8T>G
|
rs1165582049
|
|